Vincent Timmerman
Universiteit Antwerpen
H-index: 80
Europe-Belgium
Top articles of Vincent Timmerman
Title | Journal | Author(s) | Publication Date |
|---|---|---|---|
The Metabolic and Lipidomic Fingerprint of Torin1 Exposure in Mouse Embryonic Fibroblasts Using Untargeted Metabolomics | Metabolites | Rani Robeyns Angela Sisto Elias Iturrospe Katyeny Manuela da Silva Maria van de Lavoir | 2024/4/25 |
Overarching pathomechanisms in inherited peripheral neuropathies, spastic paraplegias, and cerebellar ataxias | Liedewei Van de Vondel Jonathan De Winter Vincent Timmerman Jonathan Baets | 2024/2/14 | |
Myelin protein zero mutation‐related hereditary neuropathies: Neuropathological insight from a new nerve biopsy cohort | Brain Pathology | Juliane Bremer Axel Meinhardt Istvan Katona Jan Senderek Elke K Kämmerer‐Gassler | 2024/1 |
A Solve-RD ClinVar-based reanalysis of 1522 index cases from ERN-ITHACA reveals common pitfalls and misinterpretations in exome sequencing | Genetics in Medicine | Anne-Sophie Denommé-Pichon Leslie Matalonga Elke de Boer Adam Jackson Elisa Benetti | 2023/4/1 |
Frameshift mutations in the heat shock protein B8 cause its aggregation and impair proteostasis in neuromyopathies | B Tedesco L Vendredy E Adriaenssens M Cozzi B Asselbergh | 2022/11/17 | |
Tyrosyl-tRNA synthetase has a noncanonical function in actin bundling | Nature communications | Biljana Ermanoska Bob Asselbergh Laura Morant Maria-Luise Petrovic-Erfurth Seyyedmohsen Hosseinibarkooie | 2023/3/8 |
HSPB8 frameshift mutant aggregates weaken chaperone-assisted selective autophagy in neuromyopathies | Autophagy | Barbara Tedesco Leen Vendredy Elias Adriaenssens Marta Cozzi Bob Asselbergh | 2023/8/3 |
Small heat shock proteins operate as molecular chaperones in the mitochondrial intermembrane space | Nature Cell Biology | Elias Adriaenssens Bob Asselbergh Pablo Rivera-Mejías Sven Bervoets Leen Vendredy | 2023/3 |
Downregulation of PMP22 ameliorates myelin defects in iPSC-derived human organoid cultures of CMT1A | Brain | Jonas Van Lent Leen Vendredy Elias Adriaenssens Tatiana Da Silva Authier Bob Asselbergh | 2023/7 |
The chaperone-assisted selective autophagy complex dynamics and dysfunctions | Barbara Tedesco Leen Vendredy Vincent Timmerman Angelo Poletti | 2023/6/3 | |
Clinical, genetic, epidemiologic, evolutionary, and functional delineation of TSPEAR-related autosomal recessive ectodermal dysplasia 14 | Human Genetics and Genomics Advances | Adam Jackson Sheng-Jia Lin Elizabeth A Jones Kate E Chandler David Orr | 2023/4/13 |
Genetic landscape of congenital insensitivity to pain and hereditary sensory and autonomic neuropathies | Brain | Annette Lischka Katja Eggermann Christopher J Record Maike F Dohrn Petra Laššuthová | 2023/12 |
Genetic pain loss disorders | Annette Lischka Petra Lassuthova Arman Çakar Christopher J Record Jonas Van Lent | 2022/6/16 | |
De Novo and Dominantly Inherited SPTAN1 Mutations Cause Spastic Paraplegia and Cerebellar Ataxia | Movement disorders | Liedewei Van de Vondel Jonathan De Winter Danique Beijer Giulia Coarelli Melanie Wayand | 2022/6 |
HSPB8-enriched extracellular vesicles from oligodendroglia are protective against oxidative stress | Bram Van den Broek Charlotte Wuyts Angela Sisto Isabel Pintelon Jean-Pierre Timmermans | 2022/5/16 | |
Oligodendroglia-derived extracellular vesicles activate autophagy via LC3B/BAG3 to protect against oxidative stress with an enhanced effect for HSPB8 enriched vesicles | Cell Communication and Signaling | Bram Van den Broek Charlotte Wuyts Angela Sisto Isabel Pintelon Jean-Pierre Timmermans | 2022/5/5 |
A reference human induced pluripotent stem cell line for large-scale collaborative studies | Cell Stem Cell | Caroline B Pantazis Andrian Yang Erika Lara Justin A McDonough Cornelis Blauwendraat | 2022/12/1 |
NCAM1 and GDF15 are biomarkers of Charcot-Marie-Tooth disease in patients and mice | Brain | Matthew J Jennings Alexia Kagiava Leen Vendredy Emily L Spaulding Marina Stavrou | 2022/11/1 |
Solve-RD: systematic pan-European data sharing and collaborative analysis to solve rare diseases | European journal of human genetics | Birte Zurek Kornelia Ellwanger Lisenka ELM Vissers Rebecca Schüle Matthis Synofzik | 2021/9 |
Induced pluripotent stem cell-derived motor neurons of CMT type 2 patients reveal progressive mitochondrial dysfunction | Brain | Jonas Van Lent Peter Verstraelen Bob Asselbergh Elias Adriaenssens Ligia Mateiu | 2021/8/1 |
